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GENE - TERM ANNOTATION REPORT
1 Annotations Found.
An association has been curated linking
Trpv4
and
Brachyolmia Type 2
in Rattus norvegicus.
The association was
inferred from sequence orthology
(ISO)
The annotation was made from
RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred from sequence orthology with
TRPV4 (Homo sapiens)
[(IAGP) inferred by association of genotype and phenotype]
1
RGD objects have been annotated to
Brachyolmia Type 2
(DOID:9008855)
13
papers in RGD have been used to annotate
Trpv4
Curation Notes: ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type
Original References(s):
PMID:12884428
PMID:14755468
PMID:17879966
PMID:19232556
PMID:20037586
PMID:20037587
PMID:20037588
PMID:20104247
PMID:20425821
PMID:20460441
PMID:20503319
PMID:20577006
PMID:21288981
PMID:21336783
PMID:21454511
PMID:21573172
PMID:21658220
PMID:22702953
PMID:24575025
PMID:24789864
PMID:24963089
PMID:25256292
PMID:25741868
PMID:25802885
PMID:25900305
PMID:26110311
PMID:26170305
PMID:26249260
PMID:26392352
PMID:26467025
PMID:26948711
PMID:27751652
PMID:28251916
PMID:28492532
PMID:29858556
PMID:30230566
PMID:30373780
PMID:34529350
PMID:39033378
PMID:39825153
PMID:4056805
PMID:6628444
PMID:8179305
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